Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

ORPHA:544602

Congenital fiber-type disproportion myopathy

CFTDM

ORPHA:2020

Congenital lethal myopathy, Compton-North type

ORPHA:210163

Congenital myopathy

ORPHA:97245

Congenital myopathy with cores

ORPHA:172976

Congenital myopathy with excess of thin filaments

Actin myopathy

ORPHA:98904

Congenital myopathy, Paradas type

ORPHA:199329

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

ORPHA:168572

OBSOLETE: Congenital myopathy with fiber size variation

ORPHA:172982

OBSOLETE: Congenital myopathy with vacuoles

ORPHA:172985